LP420050-9
TERT gene promotor region
Active
Description
The TERT gene [HGNC Gene ID: 11730] located on chromosome 5 at position p15.33 encodes the catalytic subunit of telomerase, which regulates telomere length. Mutations in the TERT gene are associated with various conditions, including dyskeratosis congenita, idiopathic pulmonary fibrosis, breast cancer, cholangiocarcinoma, and melanoma. [MedlinePlus Gene: TERT] In cancers, the mutations cause an increase in telomerase activity which contributes to tumorigenesis. In central nervous system (CNS) tumors, including oligodendrogliomas, glioblastomas, haemangiopericytomas and medulloblastomas, the presence of somatic mutations in the TERT promoter region have primarily been identified. PMID: 23530248 Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- TERT gene promotor region
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-08-12
- Construct for LOINC Short Name
- TERT promotor region
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP420050-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | Gene promotore TERT, regione Synonyms: Regione gene promotore TERT |
| nl-NL | Dutch (Netherlands) | TERT-gen promotorregio |
| es-ES | Spanish (Spain) | Región promotora del gen TERT |
| zh-CN | Chinese (China) | TERT 基因启动子区 Synonyms: TERT 基因启动子区域; |
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